Variant report

Variant	nsv913871
Chromosome Location	chr21:44858534-44874702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:858)
CpG islands
(count:1162)
Chromatin interactive
region (count:74)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44860645-44861351	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:44859226-44859868	HepG2	liver:	n/a	n/a
3	ATF2	chr21:44873992-44874530	GM12878	blood:	n/a	n/a
4	ATF3	chr21:44860618-44861375	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
5	ATF3	chr21:44866146-44866579	A549	lung:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
6	ATF3	chr21:44860603-44861562	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
7	ATF3	chr21:44866239-44866536	K562	blood:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
8	BCL3	chr21:44866162-44866690	A549	lung:	n/a	chr21:44866357-44866370
9	BCL3	chr21:44860749-44861049	GM12878	blood:	n/a	n/a
10	BCL3	chr21:44865993-44866658	A549	lung:	n/a	chr21:44866357-44866370 chr21:44866073-44866086
11	BCL3	chr21:44860227-44861862	A549	lung:	n/a	chr21:44861341-44861350
12	BCL3	chr21:44860286-44861960	A549	lung:	n/a	chr21:44861341-44861350
13	BHLHE40	chr21:44866231-44866573	A549	lung:	n/a	n/a
14	BHLHE40	chr21:44866170-44866710	K562	blood:	n/a	n/a
15	BHLHE40	chr21:44860774-44861436	HepG2	liver:	n/a	n/a
16	BRCA1	chr21:44860375-44862011	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr21:44859315-44859778	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr21:44865254-44865346	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr21:44865641-44866835	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr21:44867493-44867804	K562	blood:	n/a	n/a
21	CBX3	chr21:44866403-44866797	K562	blood:	n/a	n/a
22	CBX3	chr21:44867456-44867874	K562	blood:	n/a	n/a
23	CCNT2	chr21:44866351-44866672	K562	blood:	n/a	chr21:44866402-44866411
24	CCNT2	chr21:44870986-44871035	K562	blood:	n/a	n/a
25	CEBPB	chr21:44862609-44862776	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr21:44860704-44861262	HCT-116	colon:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
27	CEBPB	chr21:44860903-44861077	H1-hESC	embryonic stem cell:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
28	CEBPB	chr21:44859366-44859680	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr21:44860712-44861377	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
30	CEBPB	chr21:44860918-44861158	K562	blood:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
31	CEBPB	chr21:44859351-44859652	HepG2	liver:	n/a	n/a
32	CEBPB	chr21:44860674-44861482	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
33	CEBPB	chr21:44860856-44861200	K562	blood:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
34	CEBPB	chr21:44860845-44861210	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
35	CEBPB	chr21:44874131-44874414	IMR90	lung:	n/a	n/a
36	CEBPB	chr21:44860816-44861281	MCF-7	breast:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
37	CEBPB	chr21:44859316-44859687	A549	lung:	n/a	n/a
38	CEBPB	chr21:44860788-44861263	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
39	CEBPB	chr21:44860363-44861576	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
40	CEBPB	chr21:44861917-44862067	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr21:44862622-44862654	IMR90	lung:	n/a	n/a
42	CEBPB	chr21:44860408-44861605	Hela-S3	cervix:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
43	CEBPB	chr21:44865751-44867150	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr21:44863260-44863533	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr21:44860743-44861213	IMR90	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
46	CEBPB	chr21:44860743-44861270	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
47	CEBPB	chr21:44860688-44861422	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
48	CEBPD	chr21:44860830-44861218	HepG2	liver:	n/a	n/a
49	CEBPD	chr21:44860724-44861481	HepG2	liver:	n/a	n/a
50	CHD2	chr21:44863166-44863562	Hela-S3	cervix:	n/a	n/a

(count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44868906-44868956	NHDF-neo	bronchial:	n/a
2	chr21:44862425-44862475	A549	lung:	n/a
3	chr21:44869862-44869912	LNCaP	prostate:	n/a
4	chr21:44868906-44868956	NHDF-neo	bronchial:	n/a
5	chr21:44862425-44862475	A549	lung:	n/a
6	chr21:44869862-44869912	LNCaP	prostate:	n/a
7	chr21:44869785-44869835	HepG2	liver:	n/a
8	chr21:44863611-44863661	PFSK-1	brain:	n/a
9	chr21:44868948-44868998	U87	brain:	n/a
10	chr21:44869785-44869835	HL-60	blood:	n/a
11	chr21:44873295-44873345	HMEC	breast:	n/a
12	chr21:44868906-44868956	Caco-2	colon:	n/a
13	chr21:44869862-44869912	T-47D	breast:	n/a
14	chr21:44863611-44863661	Jurkat	blood:	n/a
15	chr21:44863611-44863661	Hepatocyte	liver:	n/a
16	chr21:44869762-44869812	PANC-1	pancreas:	n/a
17	chr21:44870270-44870320	AG04450	lung:	fetal
18	chr21:44867263-44867313	PFSK-1	brain:	n/a
19	chr21:44869785-44869835	PFSK-1	brain:	n/a
20	chr21:44867263-44867313	PrEC	prostate:	n/a
21	chr21:44864004-44864054	HRPEpiC	eye:	n/a
22	chr21:44864004-44864054	SK-N-SH_RA	brain:	n/a
23	chr21:44869762-44869812	GM12878	blood:	n/a
24	chr21:44868948-44868998	HRE	kidney:	n/a
25	chr21:44863611-44863661	NHDF-neo	bronchial:	n/a
26	chr21:44869862-44869912	IMR90	lung:	fetal
27	chr21:44867263-44867313	AG04449	skin:	fetal
28	chr21:44865764-44865814	AG10803	skin:	n/a
29	chr21:44862425-44862475	HCF	heart:	n/a
30	chr21:44868906-44868956	ProgFib	skin:	n/a
31	chr21:44863611-44863661	HEK293	kidney:	embryo
32	chr21:44861617-44861667	HCF	heart:	n/a
33	chr21:44869682-44869732	CMK	blood:	n/a
34	chr21:44869885-44869935	ovcar-3	ovarian:	n/a
35	chr21:44864004-44864054	HCT-116	colon:	n/a
36	chr21:44864004-44864054	MCF10A-Er-Src	breast:	n/a
37	chr21:44867263-44867313	HUVEC	blood vessel:	n/a
38	chr21:44867263-44867313	NHBE	bronchial:	n/a
39	chr21:44869862-44869912	HepG2	liver:	n/a
40	chr21:44868948-44868998	Hepatocyte	liver:	n/a
41	chr21:44869785-44869835	NHBE	bronchial:	n/a
42	chr21:44868948-44868998	SAEC	small airway:	n/a
43	chr21:44863962-44864012	SAEC	small airway:	n/a
44	chr21:44861617-44861667	H1-hESC	embryonic stem cell:	embryo
45	chr21:44863962-44864012	AG09309	skin:	n/a
46	chr21:44863611-44863661	AG09309	skin:	n/a
47	chr21:44863611-44863661	GM06990	blood:	n/a
48	chr21:44863611-44863661	CMK	blood:	n/a
49	chr21:44863962-44864012	T-47D	breast:	n/a
50	chr21:44869885-44869935	GM12891	blood:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44856722..44860442-chr21:44872763..44876601,3	MCF-7	breast:
2	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
3	chr2:139958866..139960367-chr21:44857540..44859244,2	MCF-7	breast:
4	chr21:38444953..38445504-chr21:44865349..44866176,2	Hela-S3	cervix:
5	chr12:64237911..64238461-chr21:44865344..44866127,2	Hela-S3	cervix:
6	chr21:44870027..44872296-chr21:44872310..44874913,2	MCF-7	breast:
7	chr21:44856303..44862867-chr21:44920773..44925316,7	MCF-7	breast:
8	chr21:44865967..44867477-chr21:44871611..44873859,2	K562	blood:
9	chr21:44865966..44866750-chr9:91933133..91933696,2	Hela-S3	cervix:
10	chr11:65190384..65191206-chr21:44865591..44866142,2	Hela-S3	cervix:
11	chr21:44860437..44861265-chr3:149094930..149095524,2	Hela-S3	cervix:
12	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:
13	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
14	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
15	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
16	chr21:44850547..44853679-chr21:44861256..44863290,3	MCF-7	breast:
17	chr21:44870036..44872760-chr21:44874681..44876370,2	MCF-7	breast:
18	chr21:44865824..44866471-chr6:160113909..160114880,2	Hela-S3	cervix:
19	chr21:44873264..44874888-chr21:44912056..44914659,2	MCF-7	breast:
20	chr21:44844655..44848445-chr21:44860622..44864995,4	K562	blood:
21	chr21:44871717..44874236-chr21:44949940..44952677,2	K562	blood:
22	chr17:45266574..45267127-chr21:44864899..44865582,2	Hela-S3	cervix:
23	chr21:44865001..44865628-chr7:7222151..7222751,2	Hela-S3	cervix:
24	chr21:44854452..44857638-chr21:44859220..44863254,5	MCF-7	breast:
25	chr21:44853886..44856058-chr21:44856765..44858761,2	K562	blood:
26	chr1:70819842..70820538-chr21:44865952..44866901,2	Hela-S3	cervix:
27	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:
28	chr21:44858668..44862829-chr21:44863145..44867499,5	MCF-7	breast:
29	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
30	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
31	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
32	chr21:44856303..44858740-chr21:44869101..44871685,2	MCF-7	breast:
33	chr21:44845627..44848454-chr21:44859056..44862148,4	K562	blood:
34	chr21:44863034..44863852-chr7:91570057..91570757,2	Hela-S3	cervix:
35	chr21:44861251..44863206-chr21:44921382..44923569,3	MCF-7	breast:
36	chr21:44863698..44865894-chr21:44867364..44869009,2	K562	blood:
37	chr16:25268818..25269473-chr21:44865000..44865891,2	Hela-S3	cervix:
38	chr21:44864230..44866337-chr21:44922192..44925093,2	MCF-7	breast:
39	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
40	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
41	chr11:46258674..46259334-chr21:44865342..44866086,2	Hela-S3	cervix:
42	chr21:44873317..44875504-chr21:44876152..44877822,2	MCF-7	breast:
43	chr1:98386033..98386591-chr21:44860424..44861197,2	Hela-S3	cervix:
44	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
45	chr21:44868612..44870635-chr21:44890162..44893361,3	MCF-7	breast:
46	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
47	chr21:44866923..44869837-chr21:44897348..44898850,2	MCF-7	breast:
48	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
49	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
50	chr1:212731654..212732474-chr21:44864940..44865899,2	Hela-S3	cervix:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44873001-44873769	XLOC_013964
2	lnc-RRP1B-3	chr21:44868647-44868950	NONHSAT082409
3	lnc-RRP1B-3	chr21:44873001-44873771	NR_026960
4	lnc-SIK1-4	chr21:44859455-44859759	XLOC_014105
5	lnc-RRP1B-3	chr21:44873001-44873773	ENSG00000188660
6	lnc-SIK1-3	chr21:44874331-44874433	NONHSAT082411
7	lnc-RRP1B-3	chr21:44870619-44870801	XLOC_013964
8	lnc-SIK1-3	chr21:44874118-44874159	XLOC_014106
9	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407
10	lnc-RRP1B-3	chr21:44869904-44870801	ENSG00000188660
11	lnc-RRP1B-3	chr21:44871053-44872385	NR_026960
12	lnc-RRP1B-3	chr21:44868647-44868950	XLOC_013964
13	lnc-SIK1-3	chr21:44873001-44873981	NONHSAT082411
14	lnc-RRP1B-3	chr21:44869904-44870801	NR_026960
15	lnc-RRP1B-3	chr21:44870619-44870801	NONHSAT082409
16	lnc-RRP1B-3	chr21:44871053-44872385	XLOC_013964
17	lnc-RRP1B-3	chr21:44871053-44872385	ENSG00000188660
18	lnc-RRP1B-3	chr21:44871053-44873765	NONHSAT082409
19	lnc-SIK1-3	chr21:44872957-44873981	XLOC_014106
20	lnc-RRP1B-3	chr21:44871053-44872385	NONHSAT082407
21	lnc-RRP1B-3	chr21:44869904-44870801	XLOC_013964
22	lnc-RRP1B-3	chr21:44866481-44866779	XLOC_013964
23	lnc-RRP1B-3	chr21:44866744-44866779	NONHSAT082409
24	lnc-RRP1B-3	chr21:44873001-44873981	NONHSAT082407
25	lnc-RRP1B-3	chr21:44866481-44866681	NONHSAT082409
26	lnc-RRP1B-3	chr21:44871053-44873773	XLOC_013964

No data

Variant related genes	Relation type
LINC00319	TF binding region
LINC00319	CpG island
ENSG00000140859	chromatin interactions
ENSG00000188641	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000118454	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000127914	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000228120	chromatin interactions
ENSG00000196935	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000223975	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000185808	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000197568	chromatin interactions
KCNC1	miRNA target sites
ADCY6	miRNA target sites

Extended variants
information (count: 740 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs162359	chr21:44858534-44858535	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs162358	chr21:44858567-44858568	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183291714	chr21:44858652-44858653	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146597704	chr21:44858748-44858749	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147760337	chr21:44858749-44858750	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs66936715	chr21:44858750-44858751	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs57284724	chr21:44858751-44858752	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112463021	chr21:44858752-44858753	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569100617	chr21:44858762-44858763	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536724950	chr21:44858777-44858778	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188216959	chr21:44858839-44858840	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138975070	chr21:44858888-44858889	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56176112	chr21:44858889-44858890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573775812	chr21:44858947-44858948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs162357	chr21:44858967-44858968	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs9753903	chr21:44858970-44858971	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544528664	chr21:44859023-44859024	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573575623	chr21:44859034-44859035	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56407842	chr21:44859102-44859103	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs162356	chr21:44859138-44859139	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542305888	chr21:44859142-44859143	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs162355	chr21:44859171-44859172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs528194591	chr21:44859229-44859230	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76808251	chr21:44859270-44859271	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560173361	chr21:44859282-44859283	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564917053	chr21:44859310-44859311	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs162354	chr21:44859387-44859388	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550925470	chr21:44859392-44859393	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569061704	chr21:44859397-44859398	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554886275	chr21:44859452-44859453	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28733895	chr21:44859465-44859466	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs571409974	chr21:44859475-44859476	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs140798408	chr21:44859484-44859485	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs534318351	chr21:44859500-44859501	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs558654291	chr21:44859560-44859561	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs144620160	chr21:44859570-44859571	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs538133951	chr21:44859583-44859584	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs143649824	chr21:44859655-44859656	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs142910347	chr21:44859656-44859657	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs68126951	chr21:44859657-44859658	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs57183727	chr21:44859659-44859660	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs199986818	chr21:44859660-44859661	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs200761199	chr21:44859661-44859662	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs229352	chr21:44859686-44859687	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs560791260	chr21:44859760-44859761	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574690772	chr21:44859817-44859818	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs229351	chr21:44859819-44859820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs34358474	chr21:44859869-44859870	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554358395	chr21:44859903-44859904	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572823057	chr21:44859958-44859959	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44848000-44861400	Weak transcription	Colonic Mucosa	Colon
2	chr21:44848200-44862800	Weak transcription	Right Atrium	heart
3	chr21:44851000-44859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr21:44851400-44858800	Weak transcription	HSMMtube	muscle
5	chr21:44851400-44860800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:44852000-44862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:44852600-44859200	Weak transcription	Ovary	ovary
8	chr21:44852800-44859200	Weak transcription	Pancreas	Pancrea
9	chr21:44855400-44863000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:44856200-44861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:44856400-44859200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr21:44856400-44862600	Weak transcription	Spleen	Spleen
13	chr21:44856600-44859200	Weak transcription	Fetal Lung	lung
14	chr21:44856600-44859200	Weak transcription	Right Ventricle	heart
15	chr21:44856600-44860000	Weak transcription	Lung	lung
16	chr21:44856800-44859800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:44856800-44861400	Weak transcription	Gastric	stomach
18	chr21:44856800-44873200	Enhancers	Placenta	Placenta
19	chr21:44857200-44858800	Weak transcription	Fetal Intestine Small	intestine
20	chr21:44857400-44859000	Enhancers	GM12878-XiMat	blood
21	chr21:44857400-44866000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:44857600-44859000	Weak transcription	Stomach Mucosa	stomach
23	chr21:44857600-44859000	Enhancers	HepG2	liver
24	chr21:44857600-44859800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:44857800-44858800	Weak transcription	Fetal Intestine Large	intestine
26	chr21:44857800-44858800	Weak transcription	Hela-S3	cervix
27	chr21:44857800-44858800	Weak transcription	HSMM	muscle
28	chr21:44858000-44859000	Weak transcription	Fetal Heart	heart
29	chr21:44858400-44858800	Weak transcription	Fetal Muscle Leg	muscle
30	chr21:44858400-44858800	Active TSS	A549	lung
31	chr21:44858800-44859200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:44858800-44859400	Enhancers	Fetal Muscle Leg	muscle
33	chr21:44858800-44859400	Enhancers	HSMM	muscle
34	chr21:44858800-44859800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr21:44858800-44859800	Enhancers	HSMMtube	muscle
36	chr21:44858800-44860000	Flanking Active TSS	A549	lung
37	chr21:44858800-44860000	Enhancers	Hela-S3	cervix
38	chr21:44858800-44863400	Enhancers	Fetal Intestine Large	intestine
39	chr21:44858800-44867800	Enhancers	Fetal Intestine Small	intestine
40	chr21:44859000-44859400	Flanking Active TSS	HepG2	liver
41	chr21:44859000-44859600	Enhancers	Fetal Heart	heart
42	chr21:44859000-44860000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr21:44859000-44860000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:44859000-44860200	Flanking Active TSS	GM12878-XiMat	blood
45	chr21:44859000-44860800	Enhancers	Duodenum Mucosa	Duodenum
46	chr21:44859000-44864000	Enhancers	Stomach Mucosa	stomach
47	chr21:44859200-44859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:44859200-44859400	Enhancers	NHEK	skin
49	chr21:44859200-44859600	Enhancers	Right Ventricle	heart
50	chr21:44859200-44859800	Enhancers	Fetal Lung	lung

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